Genetic Testing for Epilepsy

In the past two decades, major advances in DNA analysis have revolutionized scientists’ understanding of the genetic causes of epilepsy. More than 100 genes have now been associated with the disease, although many patients with epilepsy do not know the cause of their condition.

Genetic Testing for Epilepsy

The Neurogenetics Counseling and Testing Program at Northwestern Memorial Hospital offers genetic counseling and testing to adult patients with epilepsy. While historically most genetic testing programs have been tailored to pediatric patients with epilepsy, Northwestern Medicine’s Epilepsy Neurogenetics Clinic is unique in that it is one of a few programs in the country dedicated to adults.

Patients seen at the Epilepsy Neurogenetics Clinic have the opportunity to discuss if clinical genetic testing would be appropriate for them. Patients also have the opportunity to contribute to ongoing research in epilepsy genetics. The clinic works closely with leading scientists, including those at the Carvill Lab of Northwestern University Feinberg School of Medicine. These scientists and specialists use gene discovery and molecular biology to identify new treatments for epilepsy, and their work paves the way to new discovery for those whose cause remains undetermined.

“Ultimately, uncovering the genetic changes in patients with epilepsy can help us better understand what causes epilepsy and help us develop new treatments for all patients with epilepsy,” says Dr. Gerard.

You may be a candidate for genetic testing if you have one or more of the following:

• A family history of epilepsy
• Epilepsy associated with learning disabilities or autism spectrum disorder
• Malformations of brain development, such as periventricular nodular heterotopia
• A diagnosis of Lennox-Gastaut or Dravet syndrome without a known genetic cause

Learn more about epilepsy, including how genetic counseling can be beneficial.